Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21704372del | CA2681984083 | DNAH11 | c.6274-62del (n.6274-62del) c.6295-62del (n.6295-62del) | gnomAD v4 |
7 | g.21704372T>C | CA2681984086 | DNAH11 | c.6274-62T>C (n.6274-62T>C) c.6295-62T>C (n.6295-62T>C) | dbSNP gnomAD v4 |
7 | g.21704373A= | CA1693624465 | DNAH11 | c.6274-61A= (n.6274-61A=) c.6295-61A= (n.6295-61A=) | |
7 | g.21704373A>G | CA836647281 | DNAH11 | c.6274-61A>G (n.6274-61A>G) c.6295-61A>G (n.6295-61A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704373A>T | CA2578843014 | DNAH11 | c.6274-61A>T (n.6274-61A>T) c.6295-61A>T (n.6295-61A>T) | |
7 | g.21704374G>A | CA2681984087 | DNAH11 | c.6274-60G>A (n.6274-60G>A) c.6295-60G>A (n.6295-60G>A) | gnomAD v4 |
7 | g.21704374G>C | CA2713860989 | DNAH11 | c.6274-60G>C (n.6274-60G>C) c.6295-60G>C (n.6295-60G>C) | dbSNP |
7 | g.21704374G= | CA1693624467 | DNAH11 | c.6274-60G= (n.6274-60G=) c.6295-60G= (n.6295-60G=) | |
7 | g.21704374G>T | CA836647286 | DNAH11 | c.6274-60G>T (n.6274-60G>T) c.6295-60G>T (n.6295-60G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704375T>C | CA1099220836 | DNAH11 | c.6274-59T>C (n.6274-59T>C) c.6295-59T>C (n.6295-59T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704375T= | CA1693624469 | DNAH11 | c.6274-59T= (n.6274-59T=) c.6295-59T= (n.6295-59T=) | |
7 | g.21704380dup | CA2681984088 | DNAH11 | c.6274-54dup (n.6274-54dup) c.6295-54dup (n.6295-54dup) | gnomAD v4 |
7 | g.21704376T>C | CA2681984089 | DNAH11 | c.6274-58T>C (n.6274-58T>C) c.6295-58T>C (n.6295-58T>C) | gnomAD v4 |
7 | g.21704376T>G | CA2681984090 | DNAH11 | c.6274-58T>G (n.6274-58T>G) c.6295-58T>G (n.6295-58T>G) | gnomAD v4 |
7 | g.21704378T>C | CA2681984091 | DNAH11 | c.6274-56T>C (n.6274-56T>C) c.6295-56T>C (n.6295-56T>C) | gnomAD v4 |
7 | g.21704378T>G | CA2681984092 | DNAH11 | c.6274-56T>G (n.6274-56T>G) c.6295-56T>G (n.6295-56T>G) | gnomAD v4 |
7 | g.21704380T>C | CA572919930 | DNAH11 | c.6274-54T>C (n.6274-54T>C) c.6295-54T>C (n.6295-54T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21704380T= | CA1693624470 | DNAH11 | c.6274-54T= (n.6274-54T=) c.6295-54T= (n.6295-54T=) | |
7 | g.21704382G>A | CA2681984093 | DNAH11 | c.6274-52G>A (n.6274-52G>A) c.6295-52G>A (n.6295-52G>A) | gnomAD v4 |
7 | g.21704382G>C | CA836647292 | DNAH11 | c.6274-52G>C (n.6274-52G>C) c.6295-52G>C (n.6295-52G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704382G= | CA1693624473 | DNAH11 | c.6274-52G= (n.6274-52G=) c.6295-52G= (n.6295-52G=) | |
7 | g.21704382G>T | CA2578843015 | DNAH11 | c.6274-52G>T (n.6274-52G>T) c.6295-52G>T (n.6295-52G>T) | |
7 | g.21704383G>A | CA572919931 | DNAH11 | c.6274-51G>A (n.6274-51G>A) c.6295-51G>A (n.6295-51G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704383G= | CA1693624475 | DNAH11 | c.6274-51G= (n.6274-51G=) c.6295-51G= (n.6295-51G=) | |
7 | g.21704383G>T | CA2578843016 | DNAH11 | c.6274-51G>T (n.6274-51G>T) c.6295-51G>T (n.6295-51G>T) | gnomAD v4 |
7 | g.21704384T>A | CA2714090256 | DNAH11 | c.6274-50T>A (n.6274-50T>A) c.6295-50T>A (n.6295-50T>A) | dbSNP |
7 | g.21704385G>T | CA2681984094 | DNAH11 | c.6274-49G>T (n.6274-49G>T) c.6295-49G>T (n.6295-49G>T) | gnomAD v4 |
7 | g.21704386T>G | CA2578843017 | DNAH11 | c.6274-48T>G (n.6274-48T>G) c.6295-48T>G (n.6295-48T>G) | gnomAD v4 |
7 | g.21704387T>C | CA155076358 | DNAH11 | c.6274-47T>C (n.6274-47T>C) c.6295-47T>C (n.6295-47T>C) | dbSNP gnomAD v4 |
7 | g.21704387T>G | CA155076359 | DNAH11 | c.6274-47T>G (n.6274-47T>G) c.6295-47T>G (n.6295-47T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704387T= | CA1693624478 | DNAH11 | c.6274-47T= (n.6274-47T=) c.6295-47T= (n.6295-47T=) | |
7 | g.21704388T>C | CA2681984095 | DNAH11 | c.6274-46T>C (n.6274-46T>C) c.6295-46T>C (n.6295-46T>C) | gnomAD v4 |
7 | g.21704389G>A | CA2593857316 | DNAH11 | c.6274-45G>A (n.6274-45G>A) c.6295-45G>A (n.6295-45G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704389G>C | CA572919932 | DNAH11 | c.6274-45G>C (n.6274-45G>C) c.6295-45G>C (n.6295-45G>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704389G= | CA1693624482 | DNAH11 | c.6274-45G= (n.6274-45G=) c.6295-45G= (n.6295-45G=) | |
7 | g.21704389G>T | CA2681984096 | DNAH11 | c.6274-45G>T (n.6274-45G>T) c.6295-45G>T (n.6295-45G>T) | gnomAD v4 |
7 | g.21704392A>G | CA2681984097 | DNAH11 | c.6274-42A>G (n.6274-42A>G) c.6295-42A>G (n.6295-42A>G) | gnomAD v4 |
7 | g.21704393G>A | CA2578843018 | DNAH11 | c.6274-41G>A (n.6274-41G>A) c.6295-41G>A (n.6295-41G>A) | |
7 | g.21704393G>T | CA2681984099 | DNAH11 | c.6274-41G>T (n.6274-41G>T) c.6295-41G>T (n.6295-41G>T) | gnomAD v4 |
7 | g.21704394_21704399del | CA2681984098 | DNAH11 | c.6274-40_6274-35del (n.6274-40_6274-35del) c.6295-40_6295-35del (n.6295-40_6295-35del) | gnomAD v4 |
7 | g.21704394A>C | CA2578843019 | DNAH11 | c.6274-40A>C (n.6274-40A>C) c.6295-40A>C (n.6295-40A>C) | gnomAD v4 |
7 | g.21704395C>A | CA572919933 | DNAH11 | c.6274-39C>A (n.6274-39C>A) c.6295-39C>A (n.6295-39C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704395C= | CA1693624485 | DNAH11 | c.6274-39C= (n.6274-39C=) c.6295-39C= (n.6295-39C=) | |
7 | g.21704396C>A | CA2681984100 | DNAH11 | c.6274-38C>A (n.6274-38C>A) c.6295-38C>A (n.6295-38C>A) | gnomAD v4 |
7 | g.21704396C>T | CA2681984101 | DNAH11 | c.6274-38C>T (n.6274-38C>T) c.6295-38C>T (n.6295-38C>T) | gnomAD v4 |
7 | g.21704397T>A | CA836647313 | DNAH11 | c.6274-37T>A (n.6274-37T>A) c.6295-37T>A (n.6295-37T>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704397T= | CA1693624489 | DNAH11 | c.6274-37T= (n.6274-37T=) c.6295-37T= (n.6295-37T=) | |
7 | g.21704398T>G | CA2681984102 | DNAH11 | c.6274-36T>G (n.6274-36T>G) c.6295-36T>G (n.6295-36T>G) | gnomAD v4 |
7 | g.21704399G>A | CA155076361 | DNAH11 | c.6274-35G>A (n.6274-35G>A) c.6295-35G>A (n.6295-35G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704399G>C | CA2740825065 | DNAH11 | c.6274-35G>C (n.6274-35G>C) c.6295-35G>C (n.6295-35G>C) | |
7 | g.21704399G= | CA1693624491 | DNAH11 | c.6274-35G= (n.6274-35G=) c.6295-35G= (n.6295-35G=) | |
7 | g.21704399G>T | CA2681984103 | DNAH11 | c.6274-35G>T (n.6274-35G>T) c.6295-35G>T (n.6295-35G>T) | gnomAD v4 |
7 | g.21704400T>C | CA836647317 | DNAH11 | c.6274-34T>C (n.6274-34T>C) c.6295-34T>C (n.6295-34T>C) | dbSNP |
7 | g.21704400T= | CA1693624493 | DNAH11 | c.6274-34T= (n.6274-34T=) c.6295-34T= (n.6295-34T=) | |
7 | g.21704401A= | CA1693624499 | DNAH11 | c.6274-33A= (n.6274-33A=) c.6295-33A= (n.6295-33A=) | |
7 | g.21704401A>G | CA155076368 | DNAH11 | c.6274-33A>G (n.6274-33A>G) c.6295-33A>G (n.6295-33A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704401A>T | CA572919934 | DNAH11 | c.6274-33A>T (n.6274-33A>T) c.6295-33A>T (n.6295-33A>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704401_21704407delinsATTGGCT | CA1693624497 | DNAH11 | c.6274-33_6274-27delinsATTGGCT (n.6274-33_6274-27delinsATTGGCT) c.6295-33_6295-27delinsATTGGCT (n.6295-33_6295-27delinsATTGGCT) | |
7 | g.21704402T>C | CA4180766 | DNAH11 | c.6274-32T>C (n.6274-32T>C) c.6295-32T>C (n.6295-32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704402T= | CA1693624507 | DNAH11 | c.6274-32T= (n.6274-32T=) c.6295-32T= (n.6295-32T=) | |
7 | g.21704404_21704409del | CA4180765 | DNAH11 | c.6274-30_6274-25del (n.6274-30_6274-25del) c.6295-30_6295-25del (n.6295-30_6295-25del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704404G>T | CA2681984104 | DNAH11 | c.6274-30G>T (n.6274-30G>T) c.6295-30G>T (n.6295-30G>T) | gnomAD v4 |
7 | g.21704405G>A | CA2681984105 | DNAH11 | c.6274-29G>A (n.6274-29G>A) c.6295-29G>A (n.6295-29G>A) | gnomAD v4 |
7 | g.21704405G>C | CA1099220853 | DNAH11 | c.6274-29G>C (n.6274-29G>C) c.6295-29G>C (n.6295-29G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704405G= | CA1693624509 | DNAH11 | c.6274-29G= (n.6274-29G=) c.6295-29G= (n.6295-29G=) | |
7 | g.21704405G>T | CA453964678 | DNAH11 | c.6274-29G>T (n.6274-29G>T) c.6295-29G>T (n.6295-29G>T) | gnomAD v4 |
7 | g.21704406C>A | CA572919935 | DNAH11 | c.6274-28C>A (n.6274-28C>A) c.6295-28C>A (n.6295-28C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704406C= | CA1693624513 | DNAH11 | c.6274-28C= (n.6274-28C=) c.6295-28C= (n.6295-28C=) | |
7 | g.21704406C>G | CA572919936 | DNAH11 | c.6274-28C>G (n.6274-28C>G) c.6295-28C>G (n.6295-28C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704406C>T | CA155076384 | DNAH11 | c.6274-28C>T (n.6274-28C>T) c.6295-28C>T (n.6295-28C>T) | dbSNP |
7 | g.21704407T>C | CA2681984106 | DNAH11 | c.6274-27T>C (n.6274-27T>C) c.6295-27T>C (n.6295-27T>C) | gnomAD v4 |
7 | g.21704412dup | CA2681984107 | DNAH11 | c.6274-22dup (n.6274-22dup) c.6295-22dup (n.6295-22dup) | gnomAD v4 |
7 | g.21704413A= | CA1693624517 | DNAH11 | c.6274-21A= (n.6274-21A=) c.6295-21A= (n.6295-21A=) | |
7 | g.21704413A>T | CA572919937 | DNAH11 | c.6274-21A>T (n.6274-21A>T) c.6295-21A>T (n.6295-21A>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704416A>G | CA2681984108 | DNAH11 | c.6274-18A>G (n.6274-18A>G) c.6295-18A>G (n.6295-18A>G) | gnomAD v4 |
7 | g.21704417A= | CA1693624519 | DNAH11 | c.6274-17A= (n.6274-17A=) c.6295-17A= (n.6295-17A=) | |
7 | g.21704417A>C | CA572919938 | DNAH11 | c.6274-17A>C (n.6274-17A>C) c.6295-17A>C (n.6295-17A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704417A>G | CA4180767 | DNAH11 | c.6274-17A>G (n.6274-17A>G) c.6295-17A>G (n.6295-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704418A>C | CA2681984109 | DNAH11 | c.6274-16A>C (n.6274-16A>C) c.6295-16A>C (n.6295-16A>C) | gnomAD v4 |
7 | g.21704418A>G | CA2681984110 | DNAH11 | c.6274-16A>G (n.6274-16A>G) c.6295-16A>G (n.6295-16A>G) | gnomAD v4 |
7 | g.21704419T>C | CA2681984111 | DNAH11 | c.6274-15T>C (n.6274-15T>C) c.6295-15T>C (n.6295-15T>C) | gnomAD v4 |
7 | g.21704419T= | CA1693624523 | DNAH11 | c.6274-15T= (n.6274-15T=) c.6295-15T= (n.6295-15T=) | |
7 | g.21704419_21704420delinsTG | CA1693624526 | DNAH11 | c.6274-15_6274-14delinsTG (n.6274-15_6274-14delinsTG) c.6295-15_6295-14delinsTG (n.6295-15_6295-14delinsTG) | |
7 | g.21704420del | CA572919940 | DNAH11 | c.6274-14del (n.6274-14del) c.6295-14del (n.6295-14del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704420G>A | CA1693624530 | DNAH11 | c.6274-14G>A (n.6274-14G>A) c.6295-14G>A (n.6295-14G>A) | dbSNP gnomAD v4 |
7 | g.21704420G>C | CA1693624531 | DNAH11 | c.6274-14G>C (n.6274-14G>C) c.6295-14G>C (n.6295-14G>C) | dbSNP gnomAD v4 |
7 | g.21704420G= | CA1693624533 | DNAH11 | c.6274-14G= (n.6274-14G=) c.6295-14G= (n.6295-14G=) | |
7 | g.21704420G>T | CA836647347 | DNAH11 | c.6274-14G>T (n.6274-14G>T) c.6295-14G>T (n.6295-14G>T) | dbSNP gnomAD v4 |
7 | g.21704420dup | CA4180768 | DNAH11 | c.6274-14dup (n.6274-14dup) c.6295-14dup (n.6295-14dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21704420_21704425delinsGTTTTT | CA1693624539 | DNAH11 | c.6274-14_6274-9delinsGTTTTT (n.6274-14_6274-9delinsGTTTTT) c.6295-14_6295-9delinsGTTTTT (n.6295-14_6295-9delinsGTTTTT) | |
7 | g.21704420_21704421insC | CA572919941 | DNAH11 | c.6274-14_6274-13insC (n.6274-14_6274-13insC) c.6295-14_6295-13insC (n.6295-14_6295-13insC) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704420_21704421insGTT | CA2681984117 | DNAH11 | c.6274-14_6274-13insGTT (n.6274-14_6274-13insGTT) c.6295-14_6295-13insGTT (n.6295-14_6295-13insGTT) | gnomAD v4 |
7 | g.21704420_21704421insGTTTTT | CA2681984116 | DNAH11 | c.6274-14_6274-13insGTTTTT (n.6274-14_6274-13insGTTTTT) c.6295-14_6295-13insGTTTTT (n.6295-14_6295-13insGTTTTT) | gnomAD v4 |
7 | g.21704421T>A | CA2580726168 | DNAH11 | c.6274-13T>A (n.6274-13T>A) c.6295-13T>A (n.6295-13T>A) | |
7 | g.21704421T>C | CA1693624553 | DNAH11 | c.6274-13T>C (n.6274-13T>C) c.6295-13T>C (n.6295-13T>C) | dbSNP |
7 | g.21704421T>G | CA175724 | DNAH11 | c.6274-13T>G (n.6274-13T>G) c.6295-13T>G (n.6295-13T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704421T= | CA1693624555 | DNAH11 | c.6274-13T= (n.6274-13T=) c.6295-13T= (n.6295-13T=) | |
7 | g.21704429dup | CA4180769 | DNAH11 | c.6274-5dup (n.6274-5dup) c.6295-5dup (n.6295-5dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704428_21704429dup | CA2681984115 | DNAH11 | c.6274-6_6274-5dup (n.6274-6_6274-5dup) c.6295-6_6295-5dup (n.6295-6_6295-5dup) | gnomAD v4 |
7 | g.21704427_21704429dup | CA2681984114 | DNAH11 | c.6274-7_6274-5dup (n.6274-7_6274-5dup) c.6295-7_6295-5dup (n.6295-7_6295-5dup) | gnomAD v4 |
7 | g.21704423_21704429dup | CA2681984112 | DNAH11 | c.6274-11_6274-5dup (n.6274-11_6274-5dup) c.6295-11_6295-5dup (n.6295-11_6295-5dup) | gnomAD v4 |
7 | g.21704429del | CA4180770 | DNAH11 | c.6274-5del (n.6274-5del) c.6295-5del (n.6295-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704428_21704429del | CA2681984113 | DNAH11 | c.6274-6_6274-5del (n.6274-6_6274-5del) c.6295-6_6295-5del (n.6295-6_6295-5del) | gnomAD v4 |
7 | g.21704427_21704429del | CA572919942 | DNAH11 | c.6274-7_6274-5del (n.6274-7_6274-5del) c.6295-7_6295-5del (n.6295-7_6295-5del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704425_21704429del | CA4180771 | DNAH11 | c.6274-9_6274-5del (n.6274-9_6274-5del) c.6295-9_6295-5del (n.6295-9_6295-5del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704422T>A | CA2774677549 | DNAH11 | c.6274-12T>A (n.6274-12T>A) c.6295-12T>A (n.6295-12T>A) | |
7 | g.21704422T>G | CA155076445 | DNAH11 | c.6274-12T>G (n.6274-12T>G) c.6295-12T>G (n.6295-12T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704422T= | CA1693624561 | DNAH11 | c.6274-12T= (n.6274-12T=) c.6295-12T= (n.6295-12T=) | |
7 | g.21704423T>G | CA2697557149 | DNAH11 | c.6274-11T>G (n.6274-11T>G) c.6295-11T>G (n.6295-11T>G) | ClinVar |
7 | g.21704423T= | CA1693624563 | DNAH11 | c.6274-11T= (n.6274-11T=) c.6295-11T= (n.6295-11T=) | |
7 | g.21704423_21704424insGG | CA572919947 | DNAH11 | c.6274-11_6274-10insGG (n.6274-11_6274-10insGG) c.6295-11_6295-10insGG (n.6295-11_6295-10insGG) | dbSNP gnomAD v2 |
7 | g.21704424T>A | CA2681984118 | DNAH11 | c.6274-10T>A (n.6274-10T>A) c.6295-10T>A (n.6295-10T>A) | gnomAD v4 |
7 | g.21704424T>C | CA2681984119 | DNAH11 | c.6274-10T>C (n.6274-10T>C) c.6295-10T>C (n.6295-10T>C) | gnomAD v4 |
7 | g.21704424T>G | CA4180772 | DNAH11 | c.6274-10T>G (n.6274-10T>G) c.6295-10T>G (n.6295-10T>G) | dbSNP ExAC |
7 | g.21704424T= | CA1693624566 | DNAH11 | c.6274-10T= (n.6274-10T=) c.6295-10T= (n.6295-10T=) | |
7 | g.21704425T>C | CA2681984120 | DNAH11 | c.6274-9T>C (n.6274-9T>C) c.6295-9T>C (n.6295-9T>C) | gnomAD v4 |
7 | g.21704426T>C | CA2681984121 | DNAH11 | c.6274-8T>C (n.6274-8T>C) c.6295-8T>C (n.6295-8T>C) | gnomAD v4 |
7 | g.21704429T>C | CA4180773 | DNAH11 | c.6274-5T>C (n.6274-5T>C) c.6295-5T>C (n.6295-5T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704429T= | CA1693624571 | DNAH11 | c.6274-5T= (n.6274-5T=) c.6295-5T= (n.6295-5T=) | |
7 | g.21704430C>A | CA2681984122 | DNAH11 | c.6274-4C>A (n.6274-4C>A) c.6295-4C>A (n.6295-4C>A) | gnomAD v4 |
7 | g.21704430C= | CA1693624578 | DNAH11 | c.6274-4C= (n.6274-4C=) c.6295-4C= (n.6295-4C=) | |
7 | g.21704430C>T | CA155076446 | DNAH11 | c.6274-4C>T (n.6274-4C>T) c.6295-4C>T (n.6295-4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704431T>C | CA2681984123 | DNAH11 | c.6274-3T>C (n.6274-3T>C) c.6295-3T>C (n.6295-3T>C) | gnomAD v4 |
7 | g.21704432A>C | CA366936854 | DNAH11 | c.6274-2A>C (n.6274-2A>C) c.6295-2A>C (n.6295-2A>C) | |
7 | g.21704432A>G | CA366936853 | DNAH11 | c.6274-2A>G (n.6274-2A>G) c.6295-2A>G (n.6295-2A>G) | |
7 | g.21704432A>T | CA366936852 | DNAH11 | c.6274-2A>T (n.6274-2A>T) c.6295-2A>T (n.6295-2A>T) | gnomAD v4 |
7 | g.21704432_21704434del | CA2681984124 | DNAH11 | c.6274-2_6274del c.6295-2_6295del | gnomAD v4 |
7 | g.21704432_21704437del | CA2681984125 | DNAH11 | c.6274-2_6277del c.6295-2_6298del | gnomAD v4 |
7 | g.21704433G>A | CA366936855 | DNAH11 | c.6274-1G>A (n.6274-1G>A) c.6295-1G>A (n.6295-1G>A) | ClinVar |
7 | g.21704433G>C | CA366936856 | DNAH11 | c.6274-1G>C (n.6274-1G>C) c.6295-1G>C (n.6295-1G>C) | |
7 | g.21704433G= | CA1693624582 | DNAH11 | c.6274-1G= (n.6274-1G=) c.6295-1G= (n.6295-1G=) | |
7 | g.21704433G>T | CA366936857 | DNAH11 | c.6274-1G>T (n.6274-1G>T) c.6295-1G>T (n.6295-1G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704434G>A | CA366936858 | DNAH11 | c.6274G>A (p.Val2092Ile) c.6295G>A (p.Val2099Ile) | |
7 | g.21704434G>C | CA366936859 | DNAH11 | c.6274G>C (p.Val2092Leu) c.6295G>C (p.Val2099Leu) | |
7 | g.21704434G= | CA1693624585 | DNAH11 | c.6274G= (p.Val2092=) c.6295G= (p.Val2099=) | |
7 | g.21704434G>T | CA4180774 | DNAH11 | c.6274G>T (p.Val2092Leu) c.6295G>T (p.Val2099Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704435T>A | CA366936860 | DNAH11 | c.6275T>A (p.Val2092Glu) c.6296T>A (p.Val2099Glu) | |
7 | g.21704435T>C | CA366936861 | DNAH11 | c.6275T>C (p.Val2092Ala) c.6296T>C (p.Val2099Ala) | gnomAD v4 COSMIC COSMIC |
7 | g.21704435T>G | CA366936862 | DNAH11 | c.6275T>G (p.Val2092Gly) c.6296T>G (p.Val2099Gly) | |
7 | g.21704436A>C | CA453964681 | DNAH11 | c.6276A>C (p.Val2092=) c.6297A>C (p.Val2099=) | |
7 | g.21704436A>G | CA453964680 | DNAH11 | c.6276A>G (p.Val2092=) c.6297A>G (p.Val2099=) | |
7 | g.21704436A>T | CA453964679 | DNAH11 | c.6276A>T (p.Val2092=) c.6297A>T (p.Val2099=) | gnomAD v4 |
7 | g.21704437C>A | CA366936863 | DNAH11 | c.6277C>A (p.Leu2093Ile) c.6298C>A (p.Leu2100Ile) | |
7 | g.21704437C>G | CA366936864 | DNAH11 | c.6277C>G (p.Leu2093Val) c.6298C>G (p.Leu2100Val) | |
7 | g.21704437C>T | CA366936865 | DNAH11 | c.6277C>T (p.Leu2093Phe) c.6298C>T (p.Leu2100Phe) | gnomAD v4 |
7 | g.21704438T>A | CA366936868 | DNAH11 | c.6278T>A (p.Leu2093His) c.6299T>A (p.Leu2100His) | |
7 | g.21704438T>C | CA366936867 | DNAH11 | c.6278T>C (p.Leu2093Pro) c.6299T>C (p.Leu2100Pro) | dbSNP gnomAD v2 |
7 | g.21704438T>G | CA366936866 | DNAH11 | c.6278T>G (p.Leu2093Arg) c.6299T>G (p.Leu2100Arg) | |
7 | g.21704438T= | CA1693624589 | DNAH11 | c.6278T= (p.Leu2093=) c.6299T= (p.Leu2100=) | |
7 | g.21704439C>A | CA453964682 | DNAH11 | c.6279C>A (p.Leu2093=) c.6300C>A (p.Leu2100=) | ClinVar gnomAD v4 |
7 | g.21704439C= | CA1693624593 | DNAH11 | c.6279C= (p.Leu2093=) c.6300C= (p.Leu2100=) | |
7 | g.21704439C>G | CA453964683 | DNAH11 | c.6279C>G (p.Leu2093=) c.6300C>G (p.Leu2100=) | COSMIC COSMIC |
7 | g.21704439C>T | CA453964684 | DNAH11 | c.6279C>T (p.Leu2093=) c.6300C>T (p.Leu2100=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704440A= | CA1693624597 | DNAH11 | c.6280A= (p.Met2094=) c.6301A= (p.Met2101=) | |
7 | g.21704440A>C | CA366936869 | DNAH11 | c.6280A>C (p.Met2094Leu) c.6301A>C (p.Met2101Leu) | dbSNP gnomAD v4 |
7 | g.21704440A>G | CA366936871 | DNAH11 | c.6280A>G (p.Met2094Val) c.6301A>G (p.Met2101Val) | gnomAD v4 |
7 | g.21704440A>T | CA366936870 | DNAH11 | c.6280A>T (p.Met2094Leu) c.6301A>T (p.Met2101Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704441T>A | CA366936872 | DNAH11 | c.6281T>A (p.Met2094Lys) c.6302T>A (p.Met2101Lys) | gnomAD v4 |
7 | g.21704441T>C | CA366936873 | DNAH11 | c.6281T>C (p.Met2094Thr) c.6302T>C (p.Met2101Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704441T>G | CA366936874 | DNAH11 | c.6281T>G (p.Met2094Arg) c.6302T>G (p.Met2101Arg) | |
7 | g.21704441T= | CA1693624601 | DNAH11 | c.6281T= (p.Met2094=) c.6302T= (p.Met2101=) | |
7 | g.21704442G>A | CA366936875 | DNAH11 | c.6282G>A (p.Met2094Ile) c.6303G>A (p.Met2101Ile) | dbSNP gnomAD v4 |
7 | g.21704442G>C | CA366936876 | DNAH11 | c.6282G>C (p.Met2094Ile) c.6303G>C (p.Met2101Ile) | |
7 | g.21704442G= | CA1693624604 | DNAH11 | c.6282G= (p.Met2094=) c.6303G= (p.Met2101=) | |
7 | g.21704442G>T | CA366936877 | DNAH11 | c.6282G>T (p.Met2094Ile) c.6303G>T (p.Met2101Ile) | gnomAD v4 |
7 | g.21704443A= | CA1693624608 | DNAH11 | c.6283A= (p.Arg2095=) c.6304A= (p.Arg2102=) | |
7 | g.21704443A>C | CA453964685 | DNAH11 | c.6283A>C (p.Arg2095=) c.6304A>C (p.Arg2102=) | |
7 | g.21704443A>G | CA366936878 | DNAH11 | c.6283A>G (p.Arg2095Gly) c.6304A>G (p.Arg2102Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704443A>T | CA366936879 | DNAH11 | c.6283A>T (p.Arg2095Ter) c.6304A>T (p.Arg2102Ter) | |
7 | g.21704444G>A | CA366936880 | DNAH11 | c.6284G>A (p.Arg2095Lys) c.6305G>A (p.Arg2102Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704444G>C | CA366936881 | DNAH11 | c.6284G>C (p.Arg2095Thr) c.6305G>C (p.Arg2102Thr) | |
7 | g.21704444G= | CA1693624610 | DNAH11 | c.6284G= (p.Arg2095=) c.6305G= (p.Arg2102=) | |
7 | g.21704444G>T | CA366936882 | DNAH11 | c.6284G>T (p.Arg2095Ile) c.6305G>T (p.Arg2102Ile) | |
7 | g.21704445A>C | CA366936883 | DNAH11 | c.6285A>C (p.Arg2095Ser) c.6306A>C (p.Arg2102Ser) | |
7 | g.21704445A>G | CA453964686 | DNAH11 | c.6285A>G (p.Arg2095=) c.6306A>G (p.Arg2102=) | |
7 | g.21704445A>T | CA366936884 | DNAH11 | c.6285A>T (p.Arg2095Ser) c.6306A>T (p.Arg2102Ser) | gnomAD v4 |
7 | g.21704446G>A | CA366936885 | DNAH11 | c.6286G>A (p.Ala2096Thr) c.6307G>A (p.Ala2103Thr) | |
7 | g.21704446G>C | CA366936887 | DNAH11 | c.6286G>C (p.Ala2096Pro) c.6307G>C (p.Ala2103Pro) | dbSNP |
7 | g.21704446G= | CA1693624613 | DNAH11 | c.6286G= (p.Ala2096=) c.6307G= (p.Ala2103=) | |
7 | g.21704446G>T | CA366936886 | DNAH11 | c.6286G>T (p.Ala2096Ser) c.6307G>T (p.Ala2103Ser) | |
7 | g.21704447C>A | CA366936888 | DNAH11 | c.6287C>A (p.Ala2096Glu) c.6308C>A (p.Ala2103Glu) | |
7 | g.21704447C= | CA1693624616 | DNAH11 | c.6287C= (p.Ala2096=) c.6308C= (p.Ala2103=) | |
7 | g.21704447C>G | CA366936889 | DNAH11 | c.6287C>G (p.Ala2096Gly) c.6308C>G (p.Ala2103Gly) | |
7 | g.21704447C>T | CA155076456 | DNAH11 | c.6287C>T (p.Ala2096Val) c.6308C>T (p.Ala2103Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704447_21704448insCTT | CA4180775 | DNAH11 | c.6287_6288insCTT (p.Ala2096_Leu2097insLeu) c.6308_6309insCTT (p.Ala2103_Leu2104insLeu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704448A= | CA1693624624 | DNAH11 | c.6288A= (p.Ala2096=) c.6309A= (p.Ala2103=) | |
7 | g.21704448A>C | CA453964687 | DNAH11 | c.6288A>C (p.Ala2096=) c.6309A>C (p.Ala2103=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21704448A>G | CA155076466 | DNAH11 | c.6288A>G (p.Ala2096=) c.6309A>G (p.Ala2103=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704448A>T | CA453964688 | DNAH11 | c.6288A>T (p.Ala2096=) c.6309A>T (p.Ala2103=) | |
7 | g.21704449T>A | CA366936890 | DNAH11 | c.6289T>A (p.Leu2097Ile) c.6310T>A (p.Leu2104Ile) | |
7 | g.21704449T>C | CA453964689 | DNAH11 | c.6289T>C (p.Leu2097=) c.6310T>C (p.Leu2104=) | |
7 | g.21704449T>G | CA366936891 | DNAH11 | c.6289T>G (p.Leu2097Val) c.6310T>G (p.Leu2104Val) | |
7 | g.21704450T>A | CA366936892 | DNAH11 | c.6290T>A (p.Leu2097Ter) c.6311T>A (p.Leu2104Ter) | |
7 | g.21704450T>C | CA366936893 | DNAH11 | c.6290T>C (p.Leu2097Ser) c.6311T>C (p.Leu2104Ser) | |
7 | g.21704450T>G | CA366936894 | DNAH11 | c.6290T>G (p.Leu2097Ter) c.6311T>G (p.Leu2104Ter) | |
7 | g.21704451A>C | CA366936895 | DNAH11 | c.6291A>C (p.Leu2097Phe) c.6312A>C (p.Leu2104Phe) | |
7 | g.21704451A>G | CA453964690 | DNAH11 | c.6291A>G (p.Leu2097=) c.6312A>G (p.Leu2104=) | |
7 | g.21704451A>T | CA366936896 | DNAH11 | c.6291A>T (p.Leu2097Phe) c.6312A>T (p.Leu2104Phe) | |
7 | g.21704452A>C | CA453964691 | DNAH11 | c.6292A>C (p.Arg2098=) c.6313A>C (p.Arg2105=) | gnomAD v4 |
7 | g.21704452A>G | CA366936897 | DNAH11 | c.6292A>G (p.Arg2098Gly) c.6313A>G (p.Arg2105Gly) | |
7 | g.21704452A>T | CA366936898 | DNAH11 | c.6292A>T (p.Arg2098Trp) c.6313A>T (p.Arg2105Trp) | |
7 | g.21704453G>A | CA366936899 | DNAH11 | c.6293G>A (p.Arg2098Lys) c.6314G>A (p.Arg2105Lys) | gnomAD v4 |
7 | g.21704453G>C | CA366936900 | DNAH11 | c.6293G>C (p.Arg2098Thr) c.6314G>C (p.Arg2105Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704453G= | CA1693624631 | DNAH11 | c.6293G= (p.Arg2098=) c.6314G= (p.Arg2105=) | |
7 | g.21704453G>T | CA366936901 | DNAH11 | c.6293G>T (p.Arg2098Met) c.6314G>T (p.Arg2105Met) | |
7 | g.21704454G>A | CA4180776 | DNAH11 | c.6294G>A (p.Arg2098=) c.6315G>A (p.Arg2105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21704454G>C | CA366936902 | DNAH11 | c.6294G>C (p.Arg2098Ser) c.6315G>C (p.Arg2105Ser) | |
7 | g.21704454G= | CA1693624636 | DNAH11 | c.6294G= (p.Arg2098=) c.6315G= (p.Arg2105=) | |
7 | g.21704454G>T | CA366936903 | DNAH11 | c.6294G>T (p.Arg2098Ser) c.6315G>T (p.Arg2105Ser) | |
7 | g.21704455G>A | CA350678 | DNAH11 | c.6295G>A (p.Asp2099Asn) c.6316G>A (p.Asp2106Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704455G>C | CA366936904 | DNAH11 | c.6295G>C (p.Asp2099His) c.6316G>C (p.Asp2106His) | |
7 | g.21704455G= | CA1693624643 | DNAH11 | c.6295G= (p.Asp2099=) c.6316G= (p.Asp2106=) | |
7 | g.21704455G>T | CA366936905 | DNAH11 | c.6295G>T (p.Asp2099Tyr) c.6316G>T (p.Asp2106Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704456A= | CA1693624650 | DNAH11 | c.6296A= (p.Asp2099=) c.6317A= (p.Asp2106=) | |
7 | g.21704456A>C | CA366936906 | DNAH11 | c.6296A>C (p.Asp2099Ala) c.6317A>C (p.Asp2106Ala) | |
7 | g.21704456A>G | CA366936907 | DNAH11 | c.6296A>G (p.Asp2099Gly) c.6317A>G (p.Asp2106Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704456A>T | CA366936908 | DNAH11 | c.6296A>T (p.Asp2099Val) c.6317A>T (p.Asp2106Val) | COSMIC |
7 | g.21704457T>A | CA366936909 | DNAH11 | c.6297T>A (p.Asp2099Glu) c.6318T>A (p.Asp2106Glu) | |
7 | g.21704457T>C | CA453964692 | DNAH11 | c.6297T>C (p.Asp2099=) c.6318T>C (p.Asp2106=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704457T>G | CA366936910 | DNAH11 | c.6297T>G (p.Asp2099Glu) c.6318T>G (p.Asp2106Glu) | |
7 | g.21704457T= | CA1693624653 | DNAH11 | c.6297T= (p.Asp2099=) c.6318T= (p.Asp2106=) | |
7 | g.21704458_21704459dup | CA2573142019 | DNAH11 | c.6298_6299dup (p.Asn2101SerfsTer6) c.6319_6320dup (p.Asn2108SerfsTer6) | ClinVar dbSNP |
7 | g.21704458T>A | CA366936911 | DNAH11 | c.6298T>A (p.Phe2100Ile) c.6319T>A (p.Phe2107Ile) | |
7 | g.21704458T>C | CA366936913 | DNAH11 | c.6298T>C (p.Phe2100Leu) c.6319T>C (p.Phe2107Leu) | |
7 | g.21704458T>G | CA366936912 | DNAH11 | c.6298T>G (p.Phe2100Val) c.6319T>G (p.Phe2107Val) | COSMIC |
7 | g.21704459T>A | CA366936914 | DNAH11 | c.6299T>A (p.Phe2100Tyr) c.6320T>A (p.Phe2107Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704459T>C | CA366936915 | DNAH11 | c.6299T>C (p.Phe2100Ser) c.6320T>C (p.Phe2107Ser) | dbSNP |
7 | g.21704459T>G | CA366936916 | DNAH11 | c.6299T>G (p.Phe2100Cys) c.6320T>G (p.Phe2107Cys) | gnomAD v4 |
7 | g.21704459T= | CA1693624657 | DNAH11 | c.6299T= (p.Phe2100=) c.6320T= (p.Phe2107=) | |
7 | g.21704460C>A | CA366936917 | DNAH11 | c.6300C>A (p.Phe2100Leu) c.6321C>A (p.Phe2107Leu) | |
7 | g.21704460C>G | CA366936918 | DNAH11 | c.6300C>G (p.Phe2100Leu) c.6321C>G (p.Phe2107Leu) | |
7 | g.21704460C>T | CA453964693 | DNAH11 | c.6300C>T (p.Phe2100=) c.6321C>T (p.Phe2107=) | |
7 | g.21704461A>C | CA366936919 | DNAH11 | c.6301A>C (p.Asn2101His) c.6322A>C (p.Asn2108His) | |
7 | g.21704461A>G | CA366936920 | DNAH11 | c.6301A>G (p.Asn2101Asp) c.6322A>G (p.Asn2108Asp) | gnomAD v4 |
7 | g.21704461A>T | CA366936921 | DNAH11 | c.6301A>T (p.Asn2101Tyr) c.6322A>T (p.Asn2108Tyr) | |
7 | g.21704462A= | CA1693624663 | DNAH11 | c.6302A= (p.Asn2101=) c.6323A= (p.Asn2108=) | |
7 | g.21704462A>C | CA366936922 | DNAH11 | c.6302A>C (p.Asn2101Thr) c.6323A>C (p.Asn2108Thr) | |
7 | g.21704462A>G | CA4180777 | DNAH11 | c.6302A>G (p.Asn2101Ser) c.6323A>G (p.Asn2108Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704462A>T | CA366936923 | DNAH11 | c.6302A>T (p.Asn2101Ile) c.6323A>T (p.Asn2108Ile) | gnomAD v4 |
7 | g.21704463T>A | CA4180778 | DNAH11 | c.6303T>A (p.Asn2101Lys) c.6324T>A (p.Asn2108Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704463T>C | CA155076533 | DNAH11 | c.6303T>C (p.Asn2101=) c.6324T>C (p.Asn2108=) | ClinVar dbSNP gnomAD v4 |
7 | g.21704463T>G | CA366936924 | DNAH11 | c.6303T>G (p.Asn2101Lys) c.6324T>G (p.Asn2108Lys) | |
7 | g.21704463T= | CA1693624672 | DNAH11 | c.6303T= (p.Asn2101=) c.6324T= (p.Asn2108=) | |
7 | g.21704464A>C | CA366936925 | DNAH11 | c.6304A>C (p.Met2102Leu) c.6325A>C (p.Met2109Leu) | |
7 | g.21704464A>G | CA366936927 | DNAH11 | c.6304A>G (p.Met2102Val) c.6325A>G (p.Met2109Val) | |
7 | g.21704464A>T | CA366936926 | DNAH11 | c.6304A>T (p.Met2102Leu) c.6325A>T (p.Met2109Leu) | |
7 | g.21704465T>A | CA366936928 | DNAH11 | c.6305T>A (p.Met2102Lys) c.6326T>A (p.Met2109Lys) | |
7 | g.21704465T>C | CA366936930 | DNAH11 | c.6305T>C (p.Met2102Thr) c.6326T>C (p.Met2109Thr) | |
7 | g.21704465T>G | CA366936929 | DNAH11 | c.6305T>G (p.Met2102Arg) c.6326T>G (p.Met2109Arg) | |
7 | g.21704466G>A | CA366936931 | DNAH11 | c.6306G>A (p.Met2102Ile) c.6327G>A (p.Met2109Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704466G>C | CA366936932 | DNAH11 | c.6306G>C (p.Met2102Ile) c.6327G>C (p.Met2109Ile) | |
7 | g.21704466G= | CA1693624675 | DNAH11 | c.6306G= (p.Met2102=) c.6327G= (p.Met2109=) | |
7 | g.21704466G>T | CA366936933 | DNAH11 | c.6306G>T (p.Met2102Ile) c.6327G>T (p.Met2109Ile) | gnomAD v4 |
7 | g.21704467C>A | CA366936934 | DNAH11 | c.6307C>A (p.Pro2103Thr) c.6328C>A (p.Pro2110Thr) | |
7 | g.21704467C= | CA1693624676 | DNAH11 | c.6307C= (p.Pro2103=) c.6328C= (p.Pro2110=) | |
7 | g.21704467C>G | CA366936935 | DNAH11 | c.6307C>G (p.Pro2103Ala) c.6328C>G (p.Pro2110Ala) | |
7 | g.21704467C>T | CA366936936 | DNAH11 | c.6307C>T (p.Pro2103Ser) c.6328C>T (p.Pro2110Ser) | dbSNP |
7 | g.21704468C>A | CA366936937 | DNAH11 | c.6308C>A (p.Pro2103His) c.6329C>A (p.Pro2110His) | |
7 | g.21704468C>G | CA366936938 | DNAH11 | c.6308C>G (p.Pro2103Arg) c.6329C>G (p.Pro2110Arg) | |
7 | g.21704468C>T | CA366936939 | DNAH11 | c.6308C>T (p.Pro2103Leu) c.6329C>T (p.Pro2110Leu) | |
7 | g.21704469C>A | CA453964695 | DNAH11 | c.6309C>A (p.Pro2103=) c.6330C>A (p.Pro2110=) | |
7 | g.21704469C= | CA1693624680 | DNAH11 | c.6309C= (p.Pro2103=) c.6330C= (p.Pro2110=) | |
7 | g.21704469C>G | CA155076545 | DNAH11 | c.6309C>G (p.Pro2103=) c.6330C>G (p.Pro2110=) | dbSNP |
7 | g.21704469C>T | CA453964696 | DNAH11 | c.6309C>T (p.Pro2103=) c.6330C>T (p.Pro2110=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704470A>C | CA366936940 | DNAH11 | c.6310A>C (p.Lys2104Gln) c.6331A>C (p.Lys2111Gln) | |
7 | g.21704470A>G | CA366936941 | DNAH11 | c.6310A>G (p.Lys2104Glu) c.6331A>G (p.Lys2111Glu) | |
7 | g.21704470A>T | CA366936942 | DNAH11 | c.6310A>T (p.Lys2104Ter) c.6331A>T (p.Lys2111Ter) | |
7 | g.21704471A>C | CA366936943 | DNAH11 | c.6311A>C (p.Lys2104Thr) c.6332A>C (p.Lys2111Thr) | |
7 | g.21704471A>G | CA366936945 | DNAH11 | c.6311A>G (p.Lys2104Arg) c.6332A>G (p.Lys2111Arg) | |
7 | g.21704471A>T | CA366936944 | DNAH11 | c.6311A>T (p.Lys2104Ile) c.6332A>T (p.Lys2111Ile) | |
7 | g.21704472A= | CA1693624686 | DNAH11 | c.6312A= (p.Lys2104=) c.6333A= (p.Lys2111=) | |
7 | g.21704472A>C | CA4180779 | DNAH11 | c.6312A>C (p.Lys2104Asn) c.6333A>C (p.Lys2111Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704472A>G | CA453964697 | DNAH11 | c.6312A>G (p.Lys2104=) c.6333A>G (p.Lys2111=) | |
7 | g.21704472A>T | CA366936946 | DNAH11 | c.6312A>T (p.Lys2104Asn) c.6333A>T (p.Lys2111Asn) |